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Reviewed, UniProtKB/Swiss-Prot Q13216 (ERCC8_HUMAN)

Last modified November 25, 2008. Version 82. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    DNA excision repair protein ERCC-8
Alternative name(s):
    Cockayne syndrome WD repeat protein CSA
Gene names
Name: ERCC8
Synonyms: CKN1, CSA
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length396 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Function

Involved in transcription.

Subunit structure

Interacts with the CSB protein and a subunit of RNA polymerase II TFIIH.

Subcellular location

NucleusProbable.

Involvement in disease

Defects in ERCC8 are the cause of Cockayne syndrome type A (CSA) [MIM:216400]. Cockayne syndrome is a rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer.

Sequence similarities

Contains 5 WD repeats.

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Binary interactions

With

Entry

#Exp.

IntAct

Notes

ERCC6Q034681EBI-596556,EBI-295284
GTF2H2Q138881EBI-596556,EBI-1565170
XAB2Q9HCS72EBI-295260,EBI-295232

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Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q13216-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q13216-2)

The sequence of this isoform differs from the canonical sequence as follows:
     185-205: HRQEILAVSWSPRYDYILATA → IFILFQTATTLSKRFNKKKRY
     206-396: Missing.
Notes: No experimental confirmation available.

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 396396DNA excision repair protein ERCC-8
PRO_0000050970

Regions

Repeat41 – 7232WD 1
Repeat97 – 12832WD 2
Repeat184 – 21532WD 3
Repeat243 – 27331WD 4
Repeat332 – 36231WD 5

Natural variations

Alternative sequence185 – 20521HRQEI…ILATA → IFILFQTATTLSKRFNKKKR Y in isoform 2.
VSP_013914
Alternative sequence206 – 396191Missing in isoform 2.
VSP_013915
Natural variant1601A → V in CSA.
VAR_025380
Natural variant2001Y → C: dbSNP rs4647105.
VAR_016319
Natural variant2051A → P in CSA.
VAR_025381

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Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: EC962D56226D717B

FASTA39644,055
        10         20         30         40         50         60 
MLGFLSARQT GLEDPLRLRR AESTRRVLGL ELNKDRDVER IHGGGINTLD IEPVEGRYML 

        70         80         90        100        110        120 
SGGSDGVIVL YDLENSSRQS YYTCKAVCSI GRDHPDVHRY SVETVQWYPH DTGMFTSSSF 

       130        140        150        160        170        180 
DKTLKVWDTN TLQTADVFNF EETVYSHHMS PVSTKHCLVA VGTRGPKVQL CDLKSGSCSH 

       190        200        210        220        230        240 
ILQGHRQEIL AVSWSPRYDY ILATASADSR VKLWDVRRAS GCLITLDQHN GKKSQAVESA 

       250        260        270        280        290        300 
NTAHNGKVNG LCFTSDGLHL LTVGTDNRMR LWNSSNGENT LVNYGKVCNN SKKGLKFTVS 

       310        320        330        340        350        360 
CGCSSEFVFV PYGSTIAVYT VYSGEQITML KGHYKTVDCC VFQSNFQELY SGSRDCNILA 

       370        380        390 
WVPSLYEPVP DDDETTTKSQ LNPAFEDAWS SSDEEG

« Hide

Isoform 2 [UniParc].

Checksum: 6553CE607A392576
Show »

20523,182

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References

« Hide 'large scale' references
[1]"The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH."
Henning K.A., Li L., Iyer N., McDaniel L.D., Reagan M.S., Legerski R., Schultz R.A., Stefanini M., Lehmann A.R., Mayne L.V., Friedberg E.C.
Cell 82:555-564(1995) [PubMed: 7664335] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]"NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu)."
Rieder M.J., Livingston R.J., Daniels M.R., Montoya M.A., Chung M.-W., Miyamoto K.E., Nguyen C.P., Nguyen D.A., Poel C.L., Robertson P.D., Schackwitz W.S., Sherwood J.K., Witrak L.A., Nickerson D.A.
Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT CYS-200.
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Urinary bladder.
[6]"CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism."
Cao H., Williams C., Carter M., Hegele R.A.
J. Hum. Genet. 49:61-63(2004) [PubMed: 14661080] [Abstract]
Cited for: VARIANT CSA PRO-205.
[7]"Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects."
Ridley A.J., Colley J., Wynford-Thomas D., Jones C.J.
J. Hum. Genet. 50:151-154(2005) [PubMed: 15744458] [Abstract]
Cited for: VARIANT CSA VAL-160.
+Additional computationally mapped references.

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Cross-references

Sequence databases

U28413 mRNA. Translation: AAA82605.1.
CR536563 mRNA. Translation: CAG38800.1.
BT020021 mRNA. Translation: AAV38824.1.
AY213194 Genomic DNA. Translation: AAO21128.1.
BC009793 mRNA. Translation: AAH09793.1.
PIRA57090.
RefSeqNP_000073.1.
UniGeneHs.435237

3D structure databases

HSSPHSSP built from PDB template 1ERJ based on UniProtKB P16649.
ModBaseSearch...

Protein-protein interaction databases

DIPDIP:291N.
IntActQ13216.

PTM databases

PhosphoSiteQ13216.

Polymorphism databases

NIEHS-SNPsSearch...

Genome annotation databases

EnsemblENSG00000049167. Homo sapiens. [Contig view]
GeneID1161.
KEGGhsa:1161.

Organism-specific databases

HGNCHGNC:3439. ERCC8.
MIM216400. phenotype.
609412. gene.
Orphanet191. Cockayne syndrome.
PharmGKBPA27853.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMQ13216.
HOVERGENQ13216.

Enzyme and pathway databases

ReactomeREACT_216. DNA Repair.

Gene expression databases

ArrayExpressQ13216.
CleanExHS_ERCC8.
GermOnlineENSG00000049167. Homo sapiens.

Family and domain databases

InterProIPR015943. WD40/YVTN_repeat-like.
IPR001680. WD40_repeat.
[Graphical view]
Gene3DG3DSA:2.130.10.10. WD40/YVTN_repeat-like. 1 hit.
PfamPF00400. WD40. 5 hits.
[Graphical view]
PRINTSPR00320. GPROTEINBRPT.
ProDomPD000018. WD40. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTSM00320. WD40. 5 hits.
[Graphical view]
PROSITEPS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 5 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio4822.
SOURCESearch...

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Entry information

Entry nameERCC8_HUMAN
AccessionPrimary (citable) accession number: Q13216
Secondary accession number(s): Q6FHX5, Q96GB9
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 1, 1996
Last modified: November 25, 2008
This is version 82 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents